{"id":"W4315489346","doi":"10.3389/fcell.2022.1059680","title":"Long-term prognosis of 35 patients with methionine adenosyltransferase deficiency based on newborn screening in China","year":2023,"lang":"en","type":"article","venue":"Frontiers in Cell and Developmental Biology","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto","funders":"Fundamental Research Funds for the Central Universities; Zhejiang Provincial Program for the Cultivation of High-Level Innovative Health Talents; National Natural Science Foundation of China","keywords":"Methionine Adenosyltransferase; Medicine; Newborn screening; Methionine; Pediatrics; Internal medicine; Endocrinology; Biology; Genetics; Amino acid","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002844295,0.0004757137,0.0005414016,0.0008896955,0.001241225,0.0004435627,0.0003402526,0.0005048477,0.0006641849],"category_scores_gemma":[0.0007553034,0.0002904883,0.0004606424,0.0009474358,0.0005289362,0.0003258643,0.0005339139,0.0003231264,0.0001449426],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00115192,"about_ca_system_score_gemma":0.001021854,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.02061731,"about_ca_topic_score_gemma":0.01220232,"domain_scores_codex":[0.9997304,0.00002425895,0.00003929895,0.00006097291,0.00004060688,0.0001044246],"domain_scores_gemma":[0.9994655,0.00004045753,0.0001010666,0.00002987797,0.00005905563,0.0003039847],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001466955,0.0000548098,0.9851747,0.00001156739,0.0000365613,0.009831566,0.0005488889,0.0001304052,0.001041766,0.00005005646,0.0001162779,0.002856656],"study_design_scores_gemma":[0.00002823579,0.0004505692,0.9873211,0.00001482915,0.00004720229,0.01048501,0.0005184616,0.0005004709,0.0002383828,0.000105268,0.0002670805,0.00002344853],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9996798,0.00009181014,0.00002384134,0.00002392016,0.000002669144,0.000003849706,0.00004290009,0.000001767776,0.0001294805],"genre_scores_gemma":[0.9995242,0.00009713558,0.00002667542,0.00003176792,0.000006971666,0.000004125095,0.0001653144,0.000001094777,0.0001426411],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02061731,"threshold_uncertainty_score":0.04099458,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005417635937871808,"score_gpt":0.209844768439486,"score_spread":0.2044271325016142,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}